Interstitial CystitisNCT00389142
Identifying Genetic Causes of IC/BPS
An observational study of Interstitial Cystitis and Bladder Pain Syndrome, run by Boston Children's Hospital at 1 site in United States.
Trial summary
Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS) is a common condition with no known cause or cure. Twin studies and family accounts have suggested that the condition may be genetic or passed down (inherited) from one generation to another. Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Interstitial Cystitis, Bladder Pain Syndrome
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Jan 2006to 31 Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The investigators are collecting patients throughout North America (including the United States and Canada)
Who may be able to join
- Diagnosis of IC/BPS
- Males and females of any age
- Urinary frequency - more than 1X/hour, and/or
- Dysuria, and/or
- Pelvic, suprapubic, or abdominal pain - for 3 months or longer
- Nocturia
Show all 9Show fewer
- Normal urinary stream (by history)
- No evidence of active bacterial UTI (no pyuria \& negative urinary culture for last 3 months)
- First degree relative of someone with above symptoms
Who cannot join
- Major structural/anatomical urinary tract abnormalities by ultrasound
- Underlying inborn conditions affecting the urinary tract
- Surgery/chemotherapy affected pelvic area
- GI or GU cancers
- Severe Constipation in children only
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Stephanie Brewster, MS, LCGC contact
United States1 site, 1 recruiting
- Recruiting
Boston Children's Hospital (BCH)
Boston, Massachusetts, 02115
Elicia A Estrella, MS, LCGC, 617-919-4552, elicia.estrella@childrens.harvard.edu
Catherine Brownstein, PhD, 617-355-4764, catherine.brownstein@childrens.harvard.edu
About this study
Official title: Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS)
Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS) is a common condition with no known cause or cure. Twin studies and family accounts have suggested that the condition may be genetic or passed down (inherited) from one generation to another.
In this study, the investigators are collecting genetic material via blood or saliva and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS. The investigators are enrolling inviduals with IC/BPS and their family members (family members with and without IC like symptoms). Travel to Boston not required.
Read the detailed description
The investigators are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS). The investigators are looking to enroll individuals with a clinical diagnosis of IC/BPS and their family member. The investigators are attempting to determine if there is a connection between symptoms of IC/PBS and changes in specific genes or a pathway of connected genes. The investigators will use several genetic technologies including but not limited to; linkage analysis, genome sequencing, RNAseq and candidate gene studies to try to identify the cause of IC/BPS. Once the investigators identify the cause of IC/BPS they will be able to identify and design more effective treatments for affected individuals. The investigators are looking for families with IC/BPS symptoms to give a DNA sample (from blood/saliva), urine samples, and answer several questionnaires. Travel to Boston NOT necessary.
- Conditions
- Interstitial Cystitis, Bladder Pain Syndrome
- Keywords
- pelvic pain, urinary frequency, painful bladder, urinary urgency
- Medical subject headings
- Cystitis, Interstitial, Pelvic Pain
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 cohort | All participants will undergo genome sequencing and urinalysis studies. |
What is being measured
The primary outcome is the main question the study is designed to answer.
observational study
Outcome is candidate or causative genes for causing IC/BPS.
Measured: through study completion, average of 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Oct 2006 (estimated)
- Study start15 Jan 2006
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Interstitial CystitisStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Catherine Brownstein, Boston Children's Hospital
- Investigators
- Catherine Brownstein, Ph.D., Principal investigator, Boston Children's Hosptial
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00389142
- Sponsor's protocol ID
- 04-11-160
- Other IDs
- 91208
- Status last verified
- Dec 2025
- First submitted
- 17 Oct 2006
- Last updated
- 16 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified data from individual participants may be shared with other researchers. Other researchers will be approved by the internal review board at BCH.
Publications
Dimitrakov JD. A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome. Urology. 2001 Aug;58(2):281. doi: 10.1016/s0090-4295(01)01138-4.
PubMed 11489726Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2022 Nov 27;4(1):2200013. doi: 10.1002/ggn2.202200013. eCollection 2023 Mar.
PubMed 36910591
Study at a glance
From the registry record, last updated by the sponsor on 16 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS)
- ClinicalTrials.gov ID
- NCT00389142
- Acronym / sponsor ID
- 04-11-160
- Conditions
- Interstitial Cystitis, Bladder Pain Syndrome
- Keywords
- pelvic pain, urinary frequency, painful bladder, urinary urgency
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Study start
- 15 Jan 2006 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 18 Oct 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS) is a common condition with no known cause or cure. Twin studies and family accounts have suggested that the condition may be genetic or passed down (inherited) from one generation to another.
In this study, the investigators are collecting genetic material via blood or saliva and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS. The investigators are enrolling inviduals with IC/BPS and their family members (family members with and without IC like symptoms). Travel to Boston not required.
Detailed description
The investigators are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS). The investigators are looking to enroll individuals with a clinical diagnosis of IC/BPS and their family member. The investigators are attempting to determine if there is a connection between symptoms of IC/PBS and changes in specific genes or a pathway of connected genes. The investigators will use several genetic technologies including but not limited to; linkage analysis, genome sequencing, RNAseq and candidate gene studies to try to identify the cause of IC/BPS. Once the investigators identify the cause of IC/BPS they will be able to identify and design more effective treatments for affected individuals. The investigators are looking for families with IC/BPS symptoms to give a DNA sample (from blood/saliva), urine samples, and answer several questionnaires. Travel to Boston NOT necessary.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 cohort | – | –All participants will undergo genome sequencing and urinalysis studies. |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The investigators are collecting patients throughout North America (including the United States and Canada)
Key inclusion criteria (9 listed)
- Diagnosis of IC/BPS
- Males and females of any age
- Urinary frequency - more than 1X/hour, and/or
- Dysuria, and/or
- Pelvic, suprapubic, or abdominal pain - for 3 months or longer
Key exclusion criteria (5 listed)
- Major structural/anatomical urinary tract abnormalities by ultrasound
- Underlying inborn conditions affecting the urinary tract
- Surgery/chemotherapy affected pelvic area
- GI or GU cancers
- Severe Constipation in children only
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
observational study
Time frame: through study completion, average of 10 years
Outcome is candidate or causative genes for causing IC/BPS.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Dec 2025.
- Background: PubMed 11489726Dimitrakov JD. A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome. Urology. 2001 Aug;58(2):281. doi: 10.1016/s0090-4295(01)01138-4.
- Results publication: PubMed 36910591Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2022 Nov 27;4(1):2200013. doi: 10.1002/ggn2.202200013. eCollection 2023 Mar.
- Individual participant dataSharing planned: Yes. De-identified data from individual participants may be shared with other researchers. Other researchers will be approved by the internal review board at BCH.
Related trials for Interstitial Cystitis
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Investigation of PEMF Therapy for Female Patients With IC/BPS
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Stephanie Brewster, MS, LCGC contact
Catherine Brownstein, Ph.D. principal investigator
Boston Children's Hosptial
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Interstitial Cystitis and Bladder Pain Syndrome, run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Elicia A Estrella, MS, LCGC (617-919-4552, elicia.estrella@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
observational study (time frame: through study completion, average of 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00389142, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Dec 2025.